ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580377724
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1745975
ClinVar RCV Id:
RCV002338567
RCV003096648
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Phe3989Ser
CA1715393
NM_015120.4:c.11966T>C